As the fetus develops, a small number of fetal cells dies, and their DNA molecules enter into the maternal bloodstream. BillionToOne has developed an accurate molecular counter that takes advantage of the freely circulating fetal DNA to determine whether the fetus has genetic disorders. Our molecular counting platform decreases sequencing costs and making it possible to detect even single-gene disorders. Thus, only our novel technology can accurately detect disorders such as cystic fibrosis, sickle-cell disease, spinal muscular atrophy, and thalassemias through a simple blood test.
Amniocentesis is the standard across the world for prenatal diagnostics, yet it is an extremely invasive procedure, in which a long needle is inserted into the womb to extract fetal cells from the amniotic fluid. It carries a ~0.5% miscarriage risk. Because of the risk involved, it is only done in cases in which there is already a suspicion of genetic disorder in the baby. Instead, BillionToOne has developed a non-invasive alternative that is both useful for everyone and affordable for the majority of the world.